IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients
Rett syndrome (RTT) is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl-CpG-binding protein 2 (MeCP2). Clinical observations and neurobiological analysis of mouse mod...
| Main Authors: | , , , , , , , , , , , |
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| Other Authors: | |
| Format: | Article |
| Language: | English |
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Hindawi Publishing Corporation
2015
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| Online Access: | http://hdl.handle.net/1721.1/96244 https://orcid.org/0000-0001-9730-6636 |
| _version_ | 1811090736538451968 |
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| author | Pini, Giorgio Scusa, Maria Flora Congiu, Laura Benincasa, Alberto Morescalchi, Paolina Bottiglioni, Ilaria Di Marco, Pietro Borelli, Paolo Bonuccelli, Ubaldo Della-Chiesa, Andrea Prina-Mello, Adriele Tropea, Daniela |
| author2 | Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences |
| author_facet | Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences Pini, Giorgio Scusa, Maria Flora Congiu, Laura Benincasa, Alberto Morescalchi, Paolina Bottiglioni, Ilaria Di Marco, Pietro Borelli, Paolo Bonuccelli, Ubaldo Della-Chiesa, Andrea Prina-Mello, Adriele Tropea, Daniela |
| author_sort | Pini, Giorgio |
| collection | MIT |
| description | Rett syndrome (RTT) is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl-CpG-binding protein 2 (MeCP2). Clinical observations and neurobiological analysis of mouse models suggest that defects in the expression of MeCP2 protein compromise the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function, such as insulin-like growth factor 1 (IGF1), are good candidates for ameliorating the symptoms of RTT. IGF1 and its active peptide, (1–3) IGF1, cross the blood brain barrier, and (1–3) IGF1 ameliorates the symptoms of RTT in a mouse model of the disease; therefore they are ideal treatments for neurodevelopmental disorders, including RTT. We performed a pilot study to establish whether there are major risks associated with IGF1 administration in RTT patients. Six young girls with classic RTT received IGF1 subcutaneous injections twice a day for six months, and they were regularly monitored by their primary care physicians and by the unit for RTT in Versilia Hospital (Italy). This study shows that there are no risks associated with IGF1 administration. |
| first_indexed | 2024-09-23T14:51:09Z |
| format | Article |
| id | mit-1721.1/96244 |
| institution | Massachusetts Institute of Technology |
| language | English |
| last_indexed | 2024-09-23T14:51:09Z |
| publishDate | 2015 |
| publisher | Hindawi Publishing Corporation |
| record_format | dspace |
| spelling | mit-1721.1/962442022-09-29T10:57:56Z IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients Pini, Giorgio Scusa, Maria Flora Congiu, Laura Benincasa, Alberto Morescalchi, Paolina Bottiglioni, Ilaria Di Marco, Pietro Borelli, Paolo Bonuccelli, Ubaldo Della-Chiesa, Andrea Prina-Mello, Adriele Tropea, Daniela Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences Picower Institute for Learning and Memory Tropea, Daniela Rett syndrome (RTT) is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl-CpG-binding protein 2 (MeCP2). Clinical observations and neurobiological analysis of mouse models suggest that defects in the expression of MeCP2 protein compromise the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function, such as insulin-like growth factor 1 (IGF1), are good candidates for ameliorating the symptoms of RTT. IGF1 and its active peptide, (1–3) IGF1, cross the blood brain barrier, and (1–3) IGF1 ameliorates the symptoms of RTT in a mouse model of the disease; therefore they are ideal treatments for neurodevelopmental disorders, including RTT. We performed a pilot study to establish whether there are major risks associated with IGF1 administration in RTT patients. Six young girls with classic RTT received IGF1 subcutaneous injections twice a day for six months, and they were regularly monitored by their primary care physicians and by the unit for RTT in Versilia Hospital (Italy). This study shows that there are no risks associated with IGF1 administration. Region Tuscany ASL12 Viareggio TIAMO Foundation SFI08/IN.1/B1916 Marie Curie IRG (248284) 2015-03-30T15:31:06Z 2015-03-30T15:31:06Z 2012 2012-02 2015-03-26T09:14:52Z Article http://purl.org/eprint/type/JournalArticle 2090-1925 2090-1933 http://hdl.handle.net/1721.1/96244 Pini, Giorgio, Maria Flora Scusa, Laura Congiu, Alberto Benincasa, Paolina Morescalchi, Ilaria Bottiglioni, Pietro Di Marco, et al. “IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients.” Autism Research and Treatment 2012 (2012): 1–14. https://orcid.org/0000-0001-9730-6636 en http://dx.doi.org/10.1155/2012/679801 Autism Research and Treatment Creative Commons Attribution http://creativecommons.org/licenses/by/2.0 Copyright © 2012 Giorgio Pini et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. application/pdf Hindawi Publishing Corporation Hindawi Publishing Corporation |
| spellingShingle | Pini, Giorgio Scusa, Maria Flora Congiu, Laura Benincasa, Alberto Morescalchi, Paolina Bottiglioni, Ilaria Di Marco, Pietro Borelli, Paolo Bonuccelli, Ubaldo Della-Chiesa, Andrea Prina-Mello, Adriele Tropea, Daniela IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients |
| title | IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients |
| title_full | IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients |
| title_fullStr | IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients |
| title_full_unstemmed | IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients |
| title_short | IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients |
| title_sort | igf1 as a potential treatment for rett syndrome safety assessment in six rett patients |
| url | http://hdl.handle.net/1721.1/96244 https://orcid.org/0000-0001-9730-6636 |
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